Myotubular myopathy is a neuromuscular condition that is associated with muscle weakness, skeletal problems, gait problems and fatigability among other medical problems. Although there are many clinical findings associated with this condition, the presentation of the disease varies from individual to individual. For instance, myotubular myopathy can be present in its life-threatening, neonatal form, it can be present in its less severe, intermediate form, or it can appear later in life in its slowly progressive form. Our laboratory is interested in studying DNA and muscle samples of these patients since it would provide insight into the genetic cause of their muscular condition.

Identification of these genes could have direct clinical benefit to patients and their families by allowing for specific diagnostic testing such as carrier detection and prenatal diagnosis for those who wish. Furthermore, understanding the genetic cause (s) of myotubular myopathy will increase our understanding of muscle biology and provide insights into future development of specific treatments and therapies.

Genetics
Once a myotubular myopathy-causing genetic alteration appears in an individual, it can be passed on in three different patterns of inheritance: autosomal dominant, autosomal recessive, and X-linked. The autosomal dominant form of myotubular myopathy is usually associated with slow progression of muscle weakness. When myotubular myopathy is inherited in an autosomal recessive fashion, onset is not neonatal, but usually earlier than that of the autosomal dominant form. In addition, the degree of severity of this form is often intermediate. The X-linked form of myotubular myopathy is usually associated with neonatal onset and severe presentation.

While currently there is no clinical diagnostic genetic testing for the autosomal dominant and the autosomal recessive forms of myotubular myopathy, the University of Chicago offers clinical diagnostic genetic testing for the X-linked form of myotubular myopathy. Genetic testing at the University of Chicago consists of screening the gene that makes an X-linked muscle-specific protein called myotubularin 1.

Research
Since there are patients with myotubular myopathy with no detectable gene change, it is the purpose of our study to determine what other genes are responsible for the cause of myotubular myopathy, how they can arise and how they are inherited. Our group of scientists and doctors is trying to understand the changes that occur in the muscle of patients with myotubular myopathy, with the hope that this will lead to improved treatment for this condition. In order to carry out our research, we need the help of families. If you are the parent of a child with myotubular myopathy, if you yourself are affected, or if you are a healthcare provider of a patient with myotubular myopathy, you may be able to help us to develop better therapies and treatments for this disorder.